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787 results
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Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.
Wiltshire KM, Hegele RA, Innes AM, Brownell AK. Wiltshire KM, et al. Among authors: hegele ra. Neuromuscul Disord. 2013 Mar;23(3):265-8. doi: 10.1016/j.nmd.2012.11.011. Epub 2013 Jan 11. Neuromuscul Disord. 2013. PMID: 23313286
The molecular basis of genetic lipodystrophies.
Bhayana S, Hegele RA. Bhayana S, et al. Among authors: hegele ra. Clin Biochem. 2002 May;35(3):171-7. doi: 10.1016/s0009-9120(02)00297-7. Clin Biochem. 2002. PMID: 12074822 Review.
PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy.
Hegele RA, Cao H, Frankowski C, Mathews ST, Leff T. Hegele RA, et al. Diabetes. 2002 Dec;51(12):3586-90. doi: 10.2337/diabetes.51.12.3586. Diabetes. 2002. PMID: 12453919
Elevated serum C-reactive protein and free fatty acids among nondiabetic carriers of missense mutations in the gene encoding lamin A/C (LMNA) with partial lipodystrophy.
Hegele RA, Kraw ME, Ban MR, Miskie BA, Huff MW, Cao H. Hegele RA, et al. Arterioscler Thromb Vasc Biol. 2003 Jan 1;23(1):111-6. doi: 10.1161/01.atv.0000047460.27435.b8. Arterioscler Thromb Vasc Biol. 2003. PMID: 12524233
Phenomics, lipodystrophy, and the metabolic syndrome.
Hegele RA. Hegele RA. Trends Cardiovasc Med. 2004 May;14(4):133-7. doi: 10.1016/j.tcm.2004.02.001. Trends Cardiovasc Med. 2004. PMID: 15177263 Review.
A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2.
Morel CF, Thomas MA, Cao H, O'Neil CH, Pickering JG, Foulkes WD, Hegele RA. Morel CF, et al. Among authors: hegele ra. J Clin Endocrinol Metab. 2006 Jul;91(7):2689-95. doi: 10.1210/jc.2005-2746. Epub 2006 Apr 24. J Clin Endocrinol Metab. 2006. PMID: 16636128
Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy.
Hegele RA, Cao H, Liu DM, Costain GA, Charlton-Menys V, Rodger NW, Durrington PN. Hegele RA, et al. Am J Hum Genet. 2006 Aug;79(2):383-9. doi: 10.1086/505885. Epub 2006 Jun 5. Am J Hum Genet. 2006. PMID: 16826530 Free PMC article.
Phenomics and lamins: from disease to therapy.
Hegele RA, Oshima J. Hegele RA, et al. Exp Cell Res. 2007 Jun 10;313(10):2134-43. doi: 10.1016/j.yexcr.2007.03.023. Epub 2007 Mar 30. Exp Cell Res. 2007. PMID: 17466974 Review.
Genetic forms of the cardiometabolic syndrome: what can they tell the clinician?
Yuan G, Hegele RA. Yuan G, et al. Among authors: hegele ra. J Cardiometab Syndr. 2007 Winter;2(1):45-8. doi: 10.1111/j.1559-4564.2007.05905.x. J Cardiometab Syndr. 2007. PMID: 17684446 Review.
Obstructive sleep apnea in 2 women with familial partial lipodystrophy due to a heterozygous LMNA R482Q mutation.
Hegele RA, Al-Attar SA, Rutt BK. Hegele RA, et al. CMAJ. 2007 Sep 25;177(7):743-5. doi: 10.1503/cmaj.070135. CMAJ. 2007. PMID: 17893350 Free PMC article. No abstract available.
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